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Association of GTF2i in the Williams-Beuren Syndrome Critical Region with Autism Spectrum Disorders / Patrick MALENFANT in Journal of Autism and Developmental Disorders, 42-7 (July 2012)
[article]
Titre : Association of GTF2i in the Williams-Beuren Syndrome Critical Region with Autism Spectrum Disorders Type de document : Texte imprimé et/ou numérique Auteurs : Patrick MALENFANT, Auteur ; Xudong LIU, Auteur ; Melissa HUDSON, Auteur ; Ying QIAO, Auteur ; Monica HRYNCHAK, Auteur ; Noémie RIENDEAU, Auteur ; M. Jeannette HILDEBRAND, Auteur ; Ira L. COHEN, Auteur ; Albert E. CHUDLEY, Auteur ; Cynthia FORSTER-GIBSON, Auteur ; Elizabeth C.R. MICKELSON, Auteur ; Evica RAJEAN-SEPAROVIC, Auteur ; M. E. Suzanne LEWIS, Auteur ; Jeanette J. A. HOLDEN, Auteur Année de publication : 2012 Article en page(s) : p.1459-1469 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorders (ASDs) Gene association GTF2i gene 7q11.23 duplication Williams-Beuren Syndrome (WBS) Index. décimale : PER Périodiques Résumé : Duplications of 7q11.23, deleted in Williams-Beuren Syndrome, have been implicated in autism spectrum disorders (ASDs). A 1.5 Mb duplication was identified in one girl with severe expressive language deficits and anxiety among 1,142 ASD individuals screened for this duplication. Family-based association studies of Tag-SNPs in three genes (STX1A , CYLN2 and GTF2i) in two multiplex autism family cohorts revealed strong association of two GTF2i SNPs and their haplotype in Cohort 1 and the combined families. The risk alleles and haplotype were associated with severe problems in social interaction and excessive repetitive behaviors. Our findings suggest the GTF2i gene is important in the etiology of autism in individuals with this duplication and in non-duplication cases with severe social interaction problems and repetitive behaviors. En ligne : http://dx.doi.org/10.1007/s10803-011-1389-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=166
in Journal of Autism and Developmental Disorders > 42-7 (July 2012) . - p.1459-1469[article] Association of GTF2i in the Williams-Beuren Syndrome Critical Region with Autism Spectrum Disorders [Texte imprimé et/ou numérique] / Patrick MALENFANT, Auteur ; Xudong LIU, Auteur ; Melissa HUDSON, Auteur ; Ying QIAO, Auteur ; Monica HRYNCHAK, Auteur ; Noémie RIENDEAU, Auteur ; M. Jeannette HILDEBRAND, Auteur ; Ira L. COHEN, Auteur ; Albert E. CHUDLEY, Auteur ; Cynthia FORSTER-GIBSON, Auteur ; Elizabeth C.R. MICKELSON, Auteur ; Evica RAJEAN-SEPAROVIC, Auteur ; M. E. Suzanne LEWIS, Auteur ; Jeanette J. A. HOLDEN, Auteur . - 2012 . - p.1459-1469.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 42-7 (July 2012) . - p.1459-1469
Mots-clés : Autism Spectrum Disorders (ASDs) Gene association GTF2i gene 7q11.23 duplication Williams-Beuren Syndrome (WBS) Index. décimale : PER Périodiques Résumé : Duplications of 7q11.23, deleted in Williams-Beuren Syndrome, have been implicated in autism spectrum disorders (ASDs). A 1.5 Mb duplication was identified in one girl with severe expressive language deficits and anxiety among 1,142 ASD individuals screened for this duplication. Family-based association studies of Tag-SNPs in three genes (STX1A , CYLN2 and GTF2i) in two multiplex autism family cohorts revealed strong association of two GTF2i SNPs and their haplotype in Cohort 1 and the combined families. The risk alleles and haplotype were associated with severe problems in social interaction and excessive repetitive behaviors. Our findings suggest the GTF2i gene is important in the etiology of autism in individuals with this duplication and in non-duplication cases with severe social interaction problems and repetitive behaviors. En ligne : http://dx.doi.org/10.1007/s10803-011-1389-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=166 Population- and Family-Based Studies Associate the MTHFR Gene with Idiopathic Autism in Simplex Families / Xudong LIU in Journal of Autism and Developmental Disorders, 41-7 (July 2011)
[article]
Titre : Population- and Family-Based Studies Associate the MTHFR Gene with Idiopathic Autism in Simplex Families Type de document : Texte imprimé et/ou numérique Auteurs : Xudong LIU, Auteur ; Fatima SOLEHDIN, Auteur ; Ira L. COHEN, Auteur ; Maripaz G. GONZALEZ, Auteur ; Edmund C. JENKINS, Auteur ; M. E. Suzanne LEWIS, Auteur ; Jeanette J. A. HOLDEN, Auteur Année de publication : 2011 Article en page(s) : p.938-944 Langues : Anglais (eng) Mots-clés : Autism spectrum disorders (ASDs) Gene association Methylenetetrahydrofolate reductase (MTHFR) Functional polymorphism Epigenetics Methylation Index. décimale : PER Périodiques Résumé : Two methylenetetrahydrofolate reductase gene (MTHFR) functional polymorphisms were studied in 205 North American simplex (SPX) and 307 multiplex (MPX) families having one or more children with an autism spectrum disorder. Case–control comparisons revealed a significantly higher frequency of the low-activity 677T allele, higher prevalence of the 677TT genotype and higher frequencies of the 677T-1298A haplotype and double homozygous 677TT/1298AA genotype in affected individuals relative to controls. Family-based association testing demonstrated significant preferential transmission of the 677T and 1298A alleles and the 677T-1298A haplotype to affected offspring. The results were not replicated in MPX families. The results associate the MTHFR gene with autism in SPX families only, suggesting that reduced MTHFR activity is a risk factor for autism in these families. En ligne : http://dx.doi.org/10.1007/s10803-010-1120-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=130
in Journal of Autism and Developmental Disorders > 41-7 (July 2011) . - p.938-944[article] Population- and Family-Based Studies Associate the MTHFR Gene with Idiopathic Autism in Simplex Families [Texte imprimé et/ou numérique] / Xudong LIU, Auteur ; Fatima SOLEHDIN, Auteur ; Ira L. COHEN, Auteur ; Maripaz G. GONZALEZ, Auteur ; Edmund C. JENKINS, Auteur ; M. E. Suzanne LEWIS, Auteur ; Jeanette J. A. HOLDEN, Auteur . - 2011 . - p.938-944.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 41-7 (July 2011) . - p.938-944
Mots-clés : Autism spectrum disorders (ASDs) Gene association Methylenetetrahydrofolate reductase (MTHFR) Functional polymorphism Epigenetics Methylation Index. décimale : PER Périodiques Résumé : Two methylenetetrahydrofolate reductase gene (MTHFR) functional polymorphisms were studied in 205 North American simplex (SPX) and 307 multiplex (MPX) families having one or more children with an autism spectrum disorder. Case–control comparisons revealed a significantly higher frequency of the low-activity 677T allele, higher prevalence of the 677TT genotype and higher frequencies of the 677T-1298A haplotype and double homozygous 677TT/1298AA genotype in affected individuals relative to controls. Family-based association testing demonstrated significant preferential transmission of the 677T and 1298A alleles and the 677T-1298A haplotype to affected offspring. The results were not replicated in MPX families. The results associate the MTHFR gene with autism in SPX families only, suggesting that reduced MTHFR activity is a risk factor for autism in these families. En ligne : http://dx.doi.org/10.1007/s10803-010-1120-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=130